Linked Data
ClinVar Variation Id:
566105
ClinVar RCV Id:
RCV000685835
dbSNP Id:
rs770439546
ExAC:
12:6442970 C / G
gnomAD v2:
12-6442970-C-G
gnomAD v3:
12-6333804-C-G
gnomAD v4:
12-6333804-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333804C>G , CM000674.2:g.6333804C>G | GRCh38 |
| NC_000012.11:g.6442970C>G , CM000674.1:g.6442970C>G | GRCh37 |
| NC_000012.10:g.6313231C>G | NCBI36 |
| NG_007506.1:g.13292G>C , LRG_193:g.13292G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.289G>C | ||
| ENST00000437813.8:c.255G>C | ENSP00000513672.1:p.Glu85Asp | |
| ENST00000440083.7:c.255G>C | ENSP00000413224.3:p.Glu85Asp | |
| ENST00000535958.2:c.*82G>C | ENSP00000513673.1:n.*82G>C | |
| ENST00000698339.1:c.255G>C | ENSP00000513670.1:p.Glu85Asp | |
| ENST00000698340.1:c.255G>C | ENSP00000513671.1:p.Glu85Asp | |
| ENST00000162749.7:c.255G>C MANE Select | ENSP00000162749.2:p.Glu85Asp | |
| ENST00000162749.6:c.255G>C | ENSP00000162749.2:p.Glu85Asp | |
| ENST00000366159.8:c.255G>C | ENSP00000380389.3:p.Glu85Asp | |
| ENST00000437813.7:n.216G>C | ||
| ENST00000440083.6:c.255G>C | ENSP00000413224.2:p.Glu85Asp | |
| ENST00000534885.5:c.101G>C | ENSP00000441803.1:p.Arg34Thr | |
| ENST00000535958.1:n.501G>C | ||
| ENST00000536194.1:c.228G>C | ENSP00000442919.1:p.Glu76Asp | |
| ENST00000539372.5:c.255G>C | ENSP00000442059.1:p.Glu85Asp | |
| ENST00000540022.5:c.194-288G>C | ENSP00000438343.1:n.194-288G>C | |
| ENST00000543048.5:c.214+41G>C | ENSP00000439981.1:n.214+41G>C | |
| ENST00000543995.5:c.193+287G>C | ENSP00000442405.1:n.193+287G>C | |
| NM_001065.3:c.255G>C , LRG_193t1:c.255G>C | NP_001056.1:p.Glu85Asp | |
| NM_001346091.1:c.-70G>C | NP_001333020.1:n.-70G>C | |
| NM_001346092.1:c.-323G>C | NP_001333021.1:n.-323G>C | |
| NR_144351.1:n.558G>C | ||
| NM_001065.4:c.255G>C MANE Select | NP_001056.1:p.Glu85Asp | |
| NM_001346091.2:c.-70G>C | NP_001333020.1:n.-70G>C | |
| NM_001346092.2:c.-323G>C | NP_001333021.1:n.-323G>C | |
| NR_144351.2:n.517G>C |